Article
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics - 1 Jan 2008
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks A S, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong K K-Y, Lyonnet S, Chakravarti A, Tam P K-H, Ceccherini I, Hofstra R M W, Fernandez R
Abstract excerpt
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and...
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